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Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort.
- Source :
-
Pediatric research [Pediatr Res] 2016 Jun; Vol. 79 (6), pp. 889-94. Date of Electronic Publication: 2016 Feb 18. - Publication Year :
- 2016
-
Abstract
- Background: Ataxia telangiectasia (AT) is a genetic multisystem disorder, presenting with progressive ataxia, immune deficiency, and propensity toward malignancy. Endocrine abnormalities (growth retardation, reproductive dysfunction, and diabetes) have been described, however detailed information regarding this aspect is lacking. We aimed to characterize endocrine anomalies and growth patterns in a large cohort of AT patients.<br />Methods: Retrospective study comprising all 52 patients (aged 2-26.2 y) followed at a national AT Clinic. Anthropometric and laboratory measurements were extracted from the charts.<br />Results: Median height-SDS was already subnormal during infancy, remaining negative throughout follow up to adulthood. Height-SDS was more impaired than weight-SDS up to age 4 y, thereafter weight-SDS steadily decreased, resulting in progressively lower BMI-SDS. IGF-I-SDS was low (-1.53 ± 1.54), but did not correlate with height-SDS. Gonadal failure was present in all 13 females older than 10 y but only in one male. Two patients had diabetes and 10 had dyslipidemia. Vitamin D deficiency was observed in 52.2% of the evaluated patients.<br />Conclusion: Our results suggest a primary growth abnormality in AT, rather than secondary to nutritional impairment or disease severity. Sex hormone replacement should be considered for female patients. Vitamin D levels should be followed and supplementation given if needed.
- Subjects :
- Adolescent
Adult
Anthropometry
Ataxia Telangiectasia complications
Blood Glucose metabolism
Child
Child, Preschool
Cross-Sectional Studies
Dyslipidemias complications
Female
Growth Disorders
Humans
Immune System
Insulin-Like Growth Factor I metabolism
Male
Retrospective Studies
Vitamin D Deficiency complications
Young Adult
Ataxia Telangiectasia physiopathology
Body Height
Body Weight
Endocrine System physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0447
- Volume :
- 79
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Pediatric research
- Publication Type :
- Academic Journal
- Accession number :
- 26891003
- Full Text :
- https://doi.org/10.1038/pr.2016.19